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Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation.

A newborn female infant presented with the classical picture of 18 trisomy syndrome. Her karyotyping was 47,XX,+der(18)t(12;18)(q24;q21)mat. The mother was a balanced reciprocal translocation carrier and so too was one of the two maternal uncles of the proposita, indicating that the translocation wa...

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Bibliografski detalji
Glavni autori: Fried, K, Bar-Yochai, A, Rosenblatt, M, Mundel, G
Format: Artigo
Jezik:Inglês
Izdano: 1978
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1012829/
https://ncbi.nlm.nih.gov/pubmed/633321
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